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Supra-Regional Assay Service

Centres for Analysis and Clinical Interpretation

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  3. Metabolism
  4. Genetic Enzymes
  5. Wolman Disease

Wolman Disease

Enzyme tests for three further disorders not readily included in the above categories are available in the laboratory and are listed below.

DISORDER
ENZYME
Glycogen storage disease type IV (Andersen disease) Glycogen Brancher Enzyme
X-linked ichthyosis Steroid sulphatase and arylsulphatase C
Pyruvate carboxylase deficiency* Pyruvate carboxylase
(* = prenatal diagnosis available)


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